Plexiform neurofibroma of the cauda equina presenting as peroneal muscular atrophy.
Explore the source record for details and available documents.
Biomedical subjects
Publications and source records attributed to O Combarros.
Explore the source record for details and available documents.
A patient developed a cervical myelopathy 20 months after radiotherapy for a carcinoma of the larynx. MRI showed an intramedullary lesion at C7. Although radiation myelopathy was suspected, tumour recurrence could not be excluded. A radiation-induced pharyngocutaneous fistula, confirmed histologically, appeared a month later. The fistula lay just anterior to the level of the spinal cord lesion, a finding useful in supporting a diagnosis of simultaneous radiation myelopathy.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
BACKGROUND: The aim of this study was to analyze the diagnostic distribution of patients consulting because of headache in a neurology department. METHODS: The clinical records of 3,498 patients who had consulted specifically due to headache between 1978 to 1993 were retrospectively studied. Diagnosis was reclassified according to the criteria of the new headache classification with data concerning the age of onset and sex distribution also being collected. RESULTS: The most frequent diagnoses were migraine (1,802 patients; 52%) tension-type headache (113; 32%), followed in decreasing order by trigeminal neuralgia, post injury headache, cluster headache, subarachnoid hemorrhage, analgesic-ergotamine abuse headache, tumoral headache, cervical disease headache, benign exertional headache, due to paranasal sinusal disorders and benign intracranial hypertension. Female predominance was observed in the whole series (68%) as in the groups with migraine, tension-type headache, neuralgia headache by analgesic-ergotamine drugs and benign intracranial hypertension. Cluster, post injury, tumor and provoked headaches (cough, exertional and sexual) were found to be more frequent in men. The age of onset was very specific for each kind of headache. The percentage of symptomatic headaches increased in direct relation to age, being 10 fold higher in patients over the age of 65. CONCLUSIONS: The diagnostic distribution of headache as a cause of medical consultation is very different to the prevalence of different headaches. This distribution by diagnosis largely depends on the age of the patient at the time of headaches onset [corrected].
We report a primary leptomeningeal lymphoma (PLML) presenting as a cerebellopontine angle lesion. CT showed slight enlargement of the ventricular system, obliteration of the basal cisterns and a dense lesion in the left cerebellopontine angle which enhanced with contrast medium. Cerebrospinal fluid abnormalities included sterile lymphocytic pleocytosis without malignant cells, low sugar and high adenosine deaminase levels. An erroneous diagnosis of tuberculous meningitis was made, but autopsy revealed a leptomeningeal B-cell lymphoma with infiltration of the middle cerebellar peduncle giving the appearance of a cerebellopontine angle lesion. Seven cases of cerebellopontine angle lymphoma have previously been described, only one of which could be classified as PLML.
Ageusia and the cheirooral syndrome developed in a patient with a relapse of multiple sclerosis. Magnetic resonance imaging revealed an area of demyelination in the thalamus. This lesion presumably affected the most medial part of the ventralis posterior nucleus, where taste information is located. Given the proximity of the taste area and somatosensory representation of the hand and oral cavity in the ventralis posterior nucleus, we propose that a diagnosis of thalamic lesion should be considered when ageusia occurs with the cheirooral syndrome.
Explore the source record for details and available documents.
Explore the source record for details and available documents.
We describe two patients with Friedreich's ataxia whose presenting symptomatology was for years progressive tabetic ataxia. Based upon the initial clinical, electrophysiological and nerve biopsy data, a diagnosis of idiopathic sensory neuropathy was established. Subsequent examination of the kin showed that three sisters of case 1 had Friedreich's ataxia. Upon serial clinical and electrocardiographic study, both patients eventually developed a florid Friedreich's ataxia, including cardiomyopathy. Our findings indicate that at onset Friedreich's ataxia may be indistinguishable from sensory neuropathy and also that serial examination and investigation of kinship are essential steps for accurate diagnosis.
The genetic and clinical features of 46 patients in nine families with "pure" hereditary spastic paraplegia are described. Inheritance was autosomal dominant in seven families and autosomal recessive in two. In dominant kinships, five families corresponded to type I with onset below 35 years, and two to type II with onset over 35 years. In early onset dominant families, in spite of apparent complete penetrance before 20, variable expression and incomplete penetrance occurred. Irrespective of genetic type, serial evaluation revealed that the main symptom consisted of slowly progressive spastic gait, extremely variable in severity, associated in some patients with decreased vibratory sense and micturition disorders generally as late features. In dominant families, the disease tended to be more severe in late onset cases. No patient had symptoms in the upper limbs and plantar responses were flexor in six symptomatic patients. Central motor conduction time studied by transcranial magnetic stimulation was always normal in the upper limbs and increased in the lower limbs in five of the eight patients on whom it was performed. Monomorphic and stereotyped clinical pattern in this series does not support the concept of multisystem involvement of the central nervous system as a hallmark of the disease.
BACKGROUND AND PURPOSE: The aim of this study was to determine the incidence, type, and prognosis of stroke in young adults in Cantabria, Spain. METHODS: We investigated prospectively all patients aged 50 years or below who were admitted with the diagnosis of a stroke to the University Hospital "Marqués de Valdecilla" from April 1, 1986, to March 31, 1988. This is the main hospital of the region to which all patients with neurological problems are referred. These patients underwent a complete clinical and laboratory assessment for stroke and had 1-year mean follow-up. RESULTS: The total series included 81 patients. The annual age-specific crude incidence rates of stroke were 17.3 and 10.4 per 100,000 for males and females, respectively. Twenty-four patients (30%) were diagnosed as having nonembolic cerebral infarction, 14 (17%) embolic cerebral infarction, 20 (25%) subarachnoid hemorrhage, 22 (27%) spontaneous cerebral hemorrhage, and one case (1%) cerebral venous thrombosis. Eighteen patients (22%) died within 30 days of the cerebrovascular event, and two others died during the follow-up period. Seventy-nine percent of the survivors recovered and were completely self-sufficient. CONCLUSIONS: The incidence of stroke in the young found in Cantabria is comparable with that in previous studies. The initial hospital mortality was not negligible, but the prognosis among the survivors was favorable.
Explore the source record for details and available documents.
A clinical, genetic and epidemiological study of hereditary ataxias and paraplegias was conducted within a defined area (Cantabria) in Northern Spain from 1974 to 1986. The series comprised 48 index cases and 65 affected relatives. On prevalence day, 103 patients were alive, giving a prevalence of 20.2 cases per 100,000. There were 24 patients (18 families) with Friedreich's ataxia (FA), 12 (6 families) with early onset cerebellar ataxia (EOCA) differing from FA, 6 (3 families) with dominantly transmitted late onset cerebellar ataxia (LOCA), 11 with 'idiopathic' LOCA, 49 (9 families) with 'pure' hereditary spastic paraplegia (HSP), and 1 patient with congenital cerebellar ataxia. The prevalence found here is comparable with the highest figures described in previous surveys. This may in part be due to the great number of secondary cases in our series. A high frequency of parental consanguinity occurred in FA patients, 'pseudodominant' inheritance being observed in 1 family. The clinical features were those of classical FA except for later onset and slower course in 1 family, and retained tendon reflexes in the lower limbs in 2 cases. Such data indicate the need for modification of the essential criteria for the disease. EOCA included 4 patients with normoreflexic ataxia and 1 patient with ataxia and luteinizing hormone-releasing hormone deficiency. In addition, there were 7 patients from 2 unrelated families with a homogeneous syndrome characterized by autosomal recessive inheritance, cerebellar ataxia, retinitis pigmentosa and sensory neuropathy. This syndrome is therefore a well defined nosological entity to be added to the list of autosomal recessive mendelian phenotypes. The clinical picture of patients with LOCA was either a 'pure' cerebellar or a 'cerebellar-plus' syndrome. Genetic subgroups of 'pure' HSP were autosomal dominant type I in 5 families and type II in 2, and autosomal recessive in 2 families.
Explore the source record for details and available documents.
BACKGROUND: This is to describe a restricted sensory syndrome of unique distribution due to thalamic infarct. CASE DESCRIPTION: We report a case of pure sensory disturbance involving the left intraoral and perioral regions and the tips of the thumb and forefinger of the left hand. Magnetic resonance imaging revealed a small infarct in the contralateral thalamus, presumably affecting the nucleus ventralis posterior. CONCLUSIONS: This patient provides an excellent correlation between clinical findings and thalamic representation of body surface as established during stereotactic procedures.
Involuntary mouthing movements indistinguishable from neuroleptic-induced tardive dyskinesia followed stroke in a woman whose computed tomographic (CT) scan showed bilateral thalamo-capsular infarction.
We describe three patients with hereditary motor and sensory neuropathy type I coming from a family who suffered from Spanish toxic oil syndrome with neuromuscular manifestations. Their clinical course neither differed from other kin only affected with the inherited neuropathy nor from other patients with Spanish toxic oil syndrome studied by us. These findings suggest that patients with hereditary motor and sensory neuropathy do not exhibit a special susceptibility to vasculitic neuropathy associated with Spanish toxic oil syndrome.